Article
Interleukin-2 receptor gamma-chain mutations in severe combined immunodeficiency with B-lymphocytes.
European journal of pediatrics - 1 Dec 1996
Tsuge I, Matsuoka H, Abe T, Kamachi Y, Torii S
Abstract excerpt
UNLABELLED: Severe combined immunodeficiency (SCID) with a normal number of B-lymphocytes usually demonstrates an X-linked inheritance and now is regarded as an interleukin-2-receptor (IL-2R) gamma-chain gene defect. Here, we report the characterization of mutations in the IL-2R gamma-chain gene...
Topics
- B-Lymphocytes
- Blotting, Northern
- Blotting, Southern
- DNA
- Fluorescent Antibody Technique, Direct
- Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor
- Humans
- Infant
- Male
- Mutation
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- RNA, Messenger
- Receptors, Interleukin-2
- Severe Combined Immunodeficiency